Q9NTJ4 (MA2C1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Alpha-mannosidase 2C1
EC=3.2.1.24

Alternative name(s):
Alpha mannosidase 6A8B
Alpha-D-mannoside mannohydrolase
Mannosidase alpha class 2C member 1

Gene names

Name:	MAN2C1
Synonyms:	MANA, MANA1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1040 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Catalytic activity	Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.
Cofactor	Binds 1 zinc ion per subunit By similarity.
Sequence similarities	Belongs to the glycosyl hydrolase 38 family.
Sequence caution	The sequence AAC00190.2 differs from that shown. Reason: Frameshift at position 1013. The sequence AAC00568.1 differs from that shown. Reason: Frameshift at position 1013.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	Metal-binding Zinc
Molecular function	Glycosidase Hydrolase
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	mannose metabolic process Inferred from electronic annotation. Source: InterPro
Molecular_function	alpha-mannosidase activity Inferred from electronic annotation. Source: EC carbohydrate binding Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NTJ4-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9NTJ4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     913-935: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q9NTJ4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     201-299: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1040	1040	Alpha-mannosidase 2C1		PRO_0000206907
Sites
	Active site	372	1	Nucleophile By similarity
	Metal binding	260	1	Zinc By similarity
	Metal binding	262	1	Zinc By similarity
	Metal binding	372	1	Zinc By similarity
	Metal binding	577	1	Zinc By similarity
Amino acid modifications
	Modified residue	480	1	Phosphoserine By similarity
	Modified residue	482	1	Phosphothreonine By similarity
Natural variations
	Alternative sequence	201 – 299	99	Missing in isoform 3.		VSP_046395
	Alternative sequence	913 – 935	23	Missing in isoform 2.		VSP_046375
	Natural variant	323	1	R → C. Ref.5 Corresponds to variant rs200595616 [ dbSNP | Ensembl ].		VAR_069180
	Natural variant	818	1	R → H. Corresponds to variant rs58557444 [ dbSNP | Ensembl ].		VAR_061192
	Natural variant	950	1	V → M. Corresponds to variant rs3803467 [ dbSNP | Ensembl ].		VAR_049211
	Natural variant	960	1	V → I. Ref.3 Corresponds to variant rs3803466 [ dbSNP | Ensembl ].		VAR_021914
	Natural variant	975	1	R → K. Corresponds to variant rs5745934 [ dbSNP | Ensembl ].		VAR_049212
Experimental info
	Sequence conflict	6	1	A → F in AAC00190. Ref.1
	Sequence conflict	14	1	L → F in AAC00190. Ref.1
	Sequence conflict	24	1	L → I in AAC00190. Ref.1
	Sequence conflict	170	1	M → I in AAC00190. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 2B40AE6E03AC1E3C	FASTA	1,040	115,835
	10 20 30 40 50 60 MAAAPALKHW RTTLERVEKF VSPLYFTDCN LRGRLFGASC PVAVLSSFLT PERLPYQEAV 70 80 90 100 110 120 QRDFRPAQVG DSFGPTWWTC WFRVELTIPE AWVGQEVHLC WESDGEGLVW RDGEPVQGLT 130 140 150 160 170 180 KEGEKTSYVL TDRLGERDPR SLTLYVEVAC NGLLGAGKGS MIAAPDPEKM FQLSRAELAV 190 200 210 220 230 240 FHRDVHMLLV DLELLLGIAK GLGKDNQRSF QALYTANQMV NVCDPAQPET FPVAQALASR 250 260 270 280 290 300 FFGQHGGESQ HTIHATGHCH IDTAWLWPFK ETVRKCARSW VTALQLMERN PEFIFACSQA 310 320 330 340 350 360 QQLEWVKSRY PGLYSRIQEF ACRGQFVPVG GTWVEMDGNL PSGEAMVRQF LQGQNFFLQE 370 380 390 400 410 420 FGKMCSEFWL PDTFGYSAQL PQIMHGCGIR RFLTQKLSWN LVNSFPHHTF FWEGLDGSRV 430 440 450 460 470 480 LVHFPPGDSY GMQGSVEEVL KTVANNRDKG RANHSAFLFG FGDGGGGPTQ TMLDRLKRLS 490 500 510 520 530 540 NTDGLPRVQL SSPRQLFSAL ESDSEQLCTW VGELFLELHN GTYTTHAQIK KGNRECERIL 550 560 570 580 590 600 HDVELLSSLA LARSAQFLYP AAQLQHLWRL LLLNQFHDVV TGSCIQMVAE EAMCHYEDIR 610 620 630 640 650 660 SHGNTLLSAA AAALCAGEPG PEGLLIVNTL PWKRIEVMAL PKPGGAHSLA LVTVPSMGYA 670 680 690 700 710 720 PVPPPTSLQP LLPQQPVFVV QETDGSVTLD NGIIRVKLDP TGRLTSLVLV ASGREAIAEG 730 740 750 760 770 780 AVGNQFVLFD DVPLYWDAWD VMDYHLETRK PVLGQAGTLA VGTEGGLRGS AWFLLQISPN 790 800 810 820 830 840 SRLSQEVVLD VGCPYVRFHT EVHWHEAHKF LKVEFPARVR SSQATYEIQF GHLQRPTHYN 850 860 870 880 890 900 TSWDWARFEV WAHRWMDLSE HGFGLALLND CKYGASVRGS ILSLSLLRAP KAPDATADTG 910 920 930 940 950 960 RHEFTYALMP HKGSFQDAGV IQAAYSLNFP LLALPAPSPA PATSWSAFSV SSPAVVLETV 970 980 990 1000 1010 1020 KQAESSPQRR SLVLRLYEAH GSHVDCWLHL SLPVQEAILC DLLERPDPAG HLTLRDNRLK 1030 1040 LTFSPFQVLS LLLVLQPPPH
	Isoform 2 [UniParc]. Checksum: 90AFFF46F25F5294	FASTA	1,017	113,461
	10 20 30 40 50 60 MAAAPALKHW RTTLERVEKF VSPLYFTDCN LRGRLFGASC PVAVLSSFLT PERLPYQEAV 70 80 90 100 110 120 QRDFRPAQVG DSFGPTWWTC WFRVELTIPE AWVGQEVHLC WESDGEGLVW RDGEPVQGLT 130 140 150 160 170 180 KEGEKTSYVL TDRLGERDPR SLTLYVEVAC NGLLGAGKGS MIAAPDPEKM FQLSRAELAV 190 200 210 220 230 240 FHRDVHMLLV DLELLLGIAK GLGKDNQRSF QALYTANQMV NVCDPAQPET FPVAQALASR 250 260 270 280 290 300 FFGQHGGESQ HTIHATGHCH IDTAWLWPFK ETVRKCARSW VTALQLMERN PEFIFACSQA 310 320 330 340 350 360 QQLEWVKSRY PGLYSRIQEF ACRGQFVPVG GTWVEMDGNL PSGEAMVRQF LQGQNFFLQE 370 380 390 400 410 420 FGKMCSEFWL PDTFGYSAQL PQIMHGCGIR RFLTQKLSWN LVNSFPHHTF FWEGLDGSRV 430 440 450 460 470 480 LVHFPPGDSY GMQGSVEEVL KTVANNRDKG RANHSAFLFG FGDGGGGPTQ TMLDRLKRLS 490 500 510 520 530 540 NTDGLPRVQL SSPRQLFSAL ESDSEQLCTW VGELFLELHN GTYTTHAQIK KGNRECERIL 550 560 570 580 590 600 HDVELLSSLA LARSAQFLYP AAQLQHLWRL LLLNQFHDVV TGSCIQMVAE EAMCHYEDIR 610 620 630 640 650 660 SHGNTLLSAA AAALCAGEPG PEGLLIVNTL PWKRIEVMAL PKPGGAHSLA LVTVPSMGYA 670 680 690 700 710 720 PVPPPTSLQP LLPQQPVFVV QETDGSVTLD NGIIRVKLDP TGRLTSLVLV ASGREAIAEG 730 740 750 760 770 780 AVGNQFVLFD DVPLYWDAWD VMDYHLETRK PVLGQAGTLA VGTEGGLRGS AWFLLQISPN 790 800 810 820 830 840 SRLSQEVVLD VGCPYVRFHT EVHWHEAHKF LKVEFPARVR SSQATYEIQF GHLQRPTHYN 850 860 870 880 890 900 TSWDWARFEV WAHRWMDLSE HGFGLALLND CKYGASVRGS ILSLSLLRAP KAPDATADTG 910 920 930 940 950 960 RHEFTYALMP HKAPSPAPAT SWSAFSVSSP AVVLETVKQA ESSPQRRSLV LRLYEAHGSH 970 980 990 1000 1010 VDCWLHLSLP VQEAILCDLL ERPDPAGHLT LRDNRLKLTF SPFQVLSLLL VLQPPPH
	Isoform 3 [UniParc]. Checksum: F2AB8C70108FB535	FASTA	941	104,690
	10 20 30 40 50 60 MAAAPALKHW RTTLERVEKF VSPLYFTDCN LRGRLFGASC PVAVLSSFLT PERLPYQEAV 70 80 90 100 110 120 QRDFRPAQVG DSFGPTWWTC WFRVELTIPE AWVGQEVHLC WESDGEGLVW RDGEPVQGLT 130 140 150 160 170 180 KEGEKTSYVL TDRLGERDPR SLTLYVEVAC NGLLGAGKGS MIAAPDPEKM FQLSRAELAV 190 200 210 220 230 240 FHRDVHMLLV DLELLLGIAK AQQLEWVKSR YPGLYSRIQE FACRGQFVPV GGTWVEMDGN 250 260 270 280 290 300 LPSGEAMVRQ FLQGQNFFLQ EFGKMCSEFW LPDTFGYSAQ LPQIMHGCGI RRFLTQKLSW 310 320 330 340 350 360 NLVNSFPHHT FFWEGLDGSR VLVHFPPGDS YGMQGSVEEV LKTVANNRDK GRANHSAFLF 370 380 390 400 410 420 GFGDGGGGPT QTMLDRLKRL SNTDGLPRVQ LSSPRQLFSA LESDSEQLCT WVGELFLELH 430 440 450 460 470 480 NGTYTTHAQI KKGNRECERI LHDVELLSSL ALARSAQFLY PAAQLQHLWR LLLLNQFHDV 490 500 510 520 530 540 VTGSCIQMVA EEAMCHYEDI RSHGNTLLSA AAAALCAGEP GPEGLLIVNT LPWKRIEVMA 550 560 570 580 590 600 LPKPGGAHSL ALVTVPSMGY APVPPPTSLQ PLLPQQPVFV VQETDGSVTL DNGIIRVKLD 610 620 630 640 650 660 PTGRLTSLVL VASGREAIAE GAVGNQFVLF DDVPLYWDAW DVMDYHLETR KPVLGQAGTL 670 680 690 700 710 720 AVGTEGGLRG SAWFLLQISP NSRLSQEVVL DVGCPYVRFH TEVHWHEAHK FLKVEFPARV 730 740 750 760 770 780 RSSQATYEIQ FGHLQRPTHY NTSWDWARFE VWAHRWMDLS EHGFGLALLN DCKYGASVRG 790 800 810 820 830 840 SILSLSLLRA PKAPDATADT GRHEFTYALM PHKGSFQDAG VIQAAYSLNF PLLALPAPSP 850 860 870 880 890 900 APATSWSAFS VSSPAVVLET VKQAESSPQR RSLVLRLYEA HGSHVDCWLH LSLPVQEAIL 910 920 930 940 CDLLERPDPA GHLTLRDNRL KLTFSPFQVL SLLLVLQPPP H

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of a human full-length cDNA encoding an alpha-mannosidase." Li B., Ma F.-R., Shi G.-X., Zhao F.-T., Li J., Li L., Wang Y., Cai Y.-Y., Zhu L.-P. Ji Chu Yi Xue Yu Lin Chuang 19:409-415(1999) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Testis.
[3]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (JUL-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT ILE-960. Tissue: Cerebellum.
[4]	"Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C. Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT CYS-323. Tissue: Skin and Uterus.
[6]	"Cloning of a human cDNA homologous to the cDNA encoding a rat ER alpha-mannosidase." Zhang L.-X., Zhu L.-P., Shi W., Ma F.-R. Zhonghua Wei Sheng Wu Xue He Mian Yi Xue Za Zhi 17:34-39(1997) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 630-1040 (ISOFORM 1). Tissue: Tonsil.
[7]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF044414 mRNA. Translation: AAC00190.2. Frameshift. AL136876 mRNA. Translation: CAB66810.1. AK225145 mRNA. No translation available. AC068338 Genomic DNA. No translation available. BC050550 mRNA. Translation: AAH50550.1. BC080191 mRNA. Translation: AAH80191.1. U37248 mRNA. Translation: AAC00568.1. Sequence problems.
IPI	IPI00783434.
PIR	T46931.
RefSeq	NP_001243424.1. NM_001256495.1. NP_001243425.1. NM_001256496.1. NP_006706.2. NM_006715.3.
UniGene	Hs.26232. Hs.598731.
3D structure databases
ProteinModelPortal	Q9NTJ4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NTJ4. 1 interaction.
MINT	MINT-1035933.
STRING	9606.ENSP00000267978.
Protein family/group databases
CAZy	GH38. Glycoside Hydrolase Family 38.
PTM databases
PhosphoSite	Q9NTJ4.
Polymorphism databases
DMDM	27923805.
Proteomic databases
PaxDb	Q9NTJ4.
PRIDE	Q9NTJ4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000267978; ENSP00000267978; ENSG00000140400. ENST00000563622; ENSP00000454589; ENSG00000140400. ENST00000569482; ENSP00000455998; ENSG00000140400.
GeneID	4123.
KEGG	hsa:4123.
UCSC	uc002baf.3. human. uc002bag.3. human.
Organism-specific databases
CTD	4123.
GeneCards	GC15M075648.
HGNC	HGNC:6827. MAN2C1.
HPA	HPA040627.
MIM	154580. gene.
neXtProt	NX_Q9NTJ4.
PharmGKB	PA30576.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0383.
HOGENOM	HOG000048425.
HOVERGEN	HBG055567.
InParanoid	Q9NTJ4.
KO	K01191.
OMA	DPEKMFQ.
OrthoDB	EOG4CNQQB.
Gene expression databases
ArrayExpress	Q9NTJ4.
Bgee	Q9NTJ4.
CleanEx	HS_MAN2C1.
Genevestigator	Q9NTJ4.
GermOnline	ENSG00000140400. Homo sapiens.
Family and domain databases
Gene3D	3.20.110.10. 1 hit.
InterPro	IPR011013. Gal_mutarotase_SF_dom. IPR011330. Glyco_hydro/deAcase_b/a-brl. IPR027291. Glyco_hydro_38/57_N. IPR011682. Glyco_hydro_38_C. IPR015341. Glyco_hydro_38_cen_dom. IPR000602. Glyco_hydro_38_N. [Graphical view]
Pfam	PF09261. Alpha-mann_mid. 1 hit. PF01074. Glyco_hydro_38. 1 hit. PF07748. Glyco_hydro_38C. 1 hit. [Graphical view]
SMART	SM00872. Alpha-mann_mid. 1 hit. [Graphical view]
SUPFAM	SSF74650. Gal_mut_like. 1 hit. SSF88713. Glyco_hydro/deAcase_b/a-brl. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	MAN2C1. human.
GenomeRNAi	4123.
NextBio	16188.
SOURCE	Search...

Entry information

Entry name

MA2C1_HUMAN

Accession

Primary (citable) accession number: Q9NTJ4
Secondary accession number(s): H3BMX2 , H3BQY8, Q13358, Q68EM8, Q9UL64

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 27, 2003
Last sequence update:	October 1, 2000
Last modified:	May 29, 2013
This is version 108 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.